A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13929



Internal ID15484391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69713564..69843839hg38UCSC Ensembl
Outerchr5:69713272..69843943hg38UCSC Ensembl
Innerchr5:69009391..69139666hg19UCSC Ensembl
Outerchr5:69009099..69139770hg19UCSC Ensembl
Innerchr5:69045147..69175422hg18UCSC Ensembl
Outerchr5:69044855..69175526hg18UCSC Ensembl
Innerchr5:69045147..69175422hg17UCSC Ensembl
Outerchr5:69044855..69175526hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38130672
hg19130672
hg18130672
hg17130672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
Known GenesSMA4
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv13929
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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